UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394238T= , CM000673.2:g.17394238T= | GRCh38 |
| NC_000011.9:g.17415785T= , CM000673.1:g.17415785T= | GRCh37 |
| NC_000011.8:g.17372361T= | NCBI36 |
| NG_008867.1:g.87665A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4146+28A= | ||
| ENST00000526037.6:n.480+28A= | ||
| ENST00000528374.2:c.1136+28A= | ||
| ENST00000529967.6:n.2884+28A= | ||
| ENST00000532220.2:n.3778+28A= | ||
| ENST00000642611.2:n.5878+28A= | ||
| ENST00000644057.2:n.1121+28A= | ||
| ENST00000645004.2:n.2044+28A= | ||
| ENST00000682051.1:n.4707+28A= | ||
| ENST00000682110.1:n.4760+28A= | ||
| ENST00000682140.1:c.*331+28A= | ENSP00000507829.1:n.*331+28A= | |
| ENST00000682185.1:n.5850+28A= | ||
| ENST00000682204.1:c.*2683+28A= | ENSP00000507094.1:n.*2683+28A= | |
| ENST00000682215.1:n.5127+28A= | ||
| ENST00000682288.1:c.*2976+28A= | ENSP00000507506.1:n.*2976+28A= | |
| ENST00000682442.1:n.4980+28A= | ||
| ENST00000682528.1:n.4837+28A= | ||
| ENST00000682673.1:n.4704+28A= | ||
| ENST00000682805.1:n.5165+28A= | ||
| ENST00000682965.1:c.*967+28A= | ENSP00000508229.1:n.*967+28A= | |
| ENST00000683093.1:n.5740+28A= | ||
| ENST00000683136.1:c.4428+28A= | ENSP00000507768.1:n.4428+28A= | |
| ENST00000683153.1:n.4802+28A= | ||
| ENST00000683365.1:n.4862+28A= | ||
| ENST00000683377.1:n.4656+28A= | ||
| ENST00000683456.1:c.*1682+28A= | ENSP00000508318.1:n.*1682+28A= | |
| ENST00000683522.1:n.4842+28A= | ||
| ENST00000683562.1:c.*2610+28A= | ENSP00000508265.1:n.*2610+28A= | |
| ENST00000683693.1:n.6221+28A= | ||
| ENST00000683725.1:c.*10+28A= | ENSP00000507496.1:n.*10+28A= | |
| ENST00000684010.1:n.4755+28A= | ||
| ENST00000684014.1:n.732+28A= | ||
| ENST00000684157.1:n.5745+28A= | ||
| ENST00000684253.1:n.4663+28A= | ||
| ENST00000684288.1:c.*2717+28A= | ENSP00000507143.1:n.*2717+28A= | |
| ENST00000684313.1:n.4192+28A= | ||
| ENST00000684332.1:n.4833+28A= | ||
| ENST00000684371.1:n.4866+28A= | ||
| ENST00000684404.1:n.5788+28A= | ||
| ENST00000684442.1:n.4984+28A= | ||
| ENST00000684555.1:c.*2757+28A= | ENSP00000507705.1:n.*2757+28A= | |
| ENST00000684571.1:c.4386+28A= | ENSP00000506935.1:n.4386+28A= | |
| ENST00000684593.1:c.*4250+28A= | ENSP00000507005.1:n.*4250+28A= | |
| ENST00000684711.1:c.*2941+28A= | ENSP00000506841.1:n.*2941+28A= | |
| ENST00000302539.9:c.4548+28A= | ENSP00000303960.4:n.4548+28A= | |
| ENST00000389817.8:c.4545+28A= MANE Select | ENSP00000374467.4:n.4545+28A= | |
| ENST00000642271.1:c.4542+28A= | ENSP00000493749.1:n.4542+28A= | |
| ENST00000642579.1:c.2599+28A= | ||
| ENST00000642611.1:n.5763+28A= | ||
| ENST00000642902.1:c.4327+28A= | ||
| ENST00000643260.1:c.4545+28A= | ENSP00000494450.1:n.4545+28A= | |
| ENST00000643562.1:c.*2667+28A= | ENSP00000496124.1:n.*2667+28A= | |
| ENST00000643925.1:c.3185+28A= | ||
| ENST00000644057.1:n.704+28A= | ||
| ENST00000644484.1:c.*3931+28A= | ENSP00000493558.1:n.*3931+28A= | |
| ENST00000644675.1:c.*2717+28A= | ENSP00000494567.1:n.*2717+28A= | |
| ENST00000644757.1:c.*3203-1258A= | ENSP00000495085.1:n.*3203-1258A= | |
| ENST00000644772.1:c.4611+28A= | ENSP00000494321.1:n.4611+28A= | |
| ENST00000645004.1:n.2238+28A= | ||
| ENST00000645076.1:c.3640+28A= | ||
| ENST00000645417.1:c.1733+28A= | ||
| ENST00000645744.1:c.*4230+28A= | ENSP00000494564.1:n.*4230+28A= | |
| ENST00000645760.1:c.4966+28A= | ||
| ENST00000645884.1:c.*1828+28A= | ENSP00000495516.1:n.*1828+28A= | |
| ENST00000646003.1:c.*2567+28A= | ENSP00000495259.1:n.*2567+28A= | |
| ENST00000646207.1:c.*3382+28A= | ENSP00000495025.1:n.*3382+28A= | |
| ENST00000646276.1:c.*3949+28A= | ENSP00000496070.1:n.*3949+28A= | |
| ENST00000646592.1:c.3851+28A= | ||
| ENST00000646902.1:c.4512+28A= | ENSP00000494101.1:n.4512+28A= | |
| ENST00000646993.1:c.*2983+28A= | ENSP00000493720.1:n.*2983+28A= | |
| ENST00000647015.1:c.4296+28A= | ENSP00000495389.1:n.4296+28A= | |
| ENST00000647086.1:c.*4131+28A= | ENSP00000493677.1:n.*4131+28A= | |
| ENST00000647158.1:c.*2832+28A= | ENSP00000495744.1:n.*2832+28A= | |
| ENST00000302539.8:c.4548+28A= | ENSP00000303960.4:n.4548+28A= | |
| ENST00000389817.7:c.4545+28A= | ENSP00000374467.3:n.4545+28A= | |
| ENST00000525022.1:n.440+28A= | ||
| ENST00000526037.5:n.305+28A= | ||
| ENST00000526168.5:c.333+28A= | ||
| ENST00000531642.5:c.576+28A= | ||
| NM_000352.4:c.4545+28A= | NP_000343.2:n.4545+28A= | |
| NM_001287174.1:c.4548+28A= | NP_001274103.1:n.4548+28A= | |
| XM_011520331.1:c.4545+28A= | XP_011518633.1:n.4545+28A= | |
| XM_011520333.1:c.3045+28A= | XP_011518635.1:n.3045+28A= | |
| XR_930890.1:n.4507+28A= | ||
| NM_001351295.1:c.4611+28A= | NP_001338224.1:n.4611+28A= | |
| NM_001351296.1:c.4545+28A= | NP_001338225.1:n.4545+28A= | |
| NM_001351297.1:c.4542+28A= | NP_001338226.1:n.4542+28A= | |
| NR_147094.1:n.4840+28A= | ||
| XM_017018197.2:c.4614+28A= | XP_016873686.1:n.4614+28A= | |
| XM_017018199.1:c.4611+28A= | XP_016873688.1:n.4611+28A= | |
| XM_017018202.1:c.3111+28A= | XP_016873691.1:n.3111+28A= | |
| XM_017018204.1:c.2502+28A= | XP_016873693.1:n.2502+28A= | |
| XM_024448668.1:c.2913+28A= | XP_024304436.1:n.2913+28A= | |
| XR_001747945.2:n.4582+28A= | ||
| XR_001747946.2:n.4513+28A= | ||
| XR_002957189.1:n.6296+28A= | ||
| NM_000352.6:c.4545+28A= MANE Select | NP_000343.2:n.4545+28A= | |
| NM_001287174.2:c.4548+28A= | NP_001274103.1:n.4548+28A= | |
| NM_001351295.2:c.4611+28A= | NP_001338224.1:n.4611+28A= | |
| NM_001351296.2:c.4545+28A= | NP_001338225.1:n.4545+28A= | |
| NM_001351297.2:c.4542+28A= | NP_001338226.1:n.4542+28A= | |
| NR_147094.2:n.4840+28A= | ||
| NM_001287174.3:c.4548+28A= | NP_001274103.1:n.4548+28A= |